Author

Shiloh Martin

Invitae (United States)ORCID 0009-0002-6653-2707Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Bo YuaniD· 2 shared Jennifer M. PuckiD· 2 shared Katharina V. Schulze· 2 shared Megan PiazzaiD· 2 shared Nicolai S. C. van OersiD· 2 shared Rajarshi GhoshiD· 2 shared Svetlana Vakkilainen· 2 shared Vanessa Cristina JacovasiD· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bo YuanORCID

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2 papers

Recent·Most cited

Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

Vanessa Cristina Jacovas, Yasemin Demirkol, Alejandro Nieto-Patlan, Shiloh Martin, Shannon McNulty, Eric J Allenspach, Svetlana Vakkilainen, Luigi D Notarangelo, Jennifer M. Puck, Jolan Walter, Alice Y Chan, Morton J Cowan, Michael S Hershfield, Nicolai S. C. van Oers, James Verbsky, , Ivan K Chinn

This paper adapts ACMG/AMP variant classification criteria for the non-protein-coding gene RMRP, resulting in a framework for classifying variants in cartilage-hair hypoplasia.

medRxiv · Nov 3, 2026 · PreprintGenetic & Genomic Medicine

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty, Justyne E. Ross, Namrata Khurana, Xueyang Pan, Alejandro Nieto-Patlán, Shiloh Martin, Benjamin McLean, Marwa Elnagheeb, Morton Jerome Cowan, Jennifer M. Puck, M S Hershfield, James W. Verbsky, Jolan Eszter Walter, , Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

Genetics in Medicine · Oct 15, 2025Peer-reviewedGenetic & Genomic Medicine